A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116697



Internal ID19277376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47759923..47760020hg38UCSC Ensembl
Outerchr12:48153706..48153803hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979259
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116697
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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